R252P (p.Arg252Pro) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
R252P (p.Arg252Pro) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
R252P (p.Arg252Pro) variant details
- p.Arg252Pro
- rs529294719
- ExAC rs529294719
- TOPMed rs529294719
- gnomAD rs529294719
- Likely pathogenic
- not provided; Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- AlphaMissense 0.20
- MetaLR 0.86
- MetaSVM 0.86
- PolyPhen-2 1.00
- MutPred 0.35
- ClinVar: Likely pathogenic (not provided; Renal cysts and diabetes syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)